scholarly journals Molecular Testing of Thyroid Nodules: A Review of Current Available Tests for Fine-Needle Aspiration Specimens

2016 ◽  
Vol 140 (12) ◽  
pp. 1338-1344 ◽  
Author(s):  
Ming Zhang ◽  
Oscar Lin
Keyword(s):  
Positive Predictive Value ◽  
Fine Needle Aspiration ◽  
Predictive Value ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Genetic Alterations ◽  
Molecular Techniques ◽  
Molecular Testing ◽  
Fine Needle ◽  
Rule Out

Context.— Fine-needle aspiration of thyroid nodules is a reliable diagnostic method to determine the nature of thyroid nodules. Nonetheless, indeterminate cytology diagnoses remain a diagnostic challenge. The development of multiplex molecular techniques and the identification of genetic alterations associated with different follicular cell–derived cancers in the thyroid have led to the introduction of several commercially available tests. Objective.— To summarize the most common commercially available molecular testing in thyroid cancer, focusing on the technical features and test performance validation. Data Sources.— Peer-reviewed original articles, review articles, and published conference abstracts were reviewed to analyze the advantages and limitations of the most common tests used in the evaluation of thyroid needle aspirations. Conclusions.— The most common tests available include the Afirma Gene Expression Classifier, ThyGenX, and ThyroSeq. The excellent negative predictive value (NPV) of the Afirma test allows it to be used as a “rule out” test. ThyGenX analyzes a panel of DNA mutations and RNA translocation fusion markers to assess the risk of malignancy with good NPV and positive predictive value. ThyroSeq is a next-generation sequencing–based gene mutation and fusion test that has been reported to have the best NPV and positive predictive value combined, suggesting that it can be used as a “rule in” and “rule out” test. Molecular testing of cytology specimens from thyroid nodules has the potential to play a major role in the evaluation of indeterminate thyroid lesions.

The Association of “GOOP” on Gross Examination of Fine Needle Aspiration Samples and On-Site Adequacy

Respiration ◽  
2021 ◽  
pp. 1-4
Author(s):  
Nikhil Meena ◽  
Thaddeus Bartter ◽  
Roshen Mathew ◽  
Abhishek Kumar ◽  
Winnie Elma Roy ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Fine Needle Aspiration ◽  
Predictive Value ◽  
Needle Aspiration ◽  
Fine Needle ◽  
Study Interval ◽  
White Material ◽  
Gross Examination ◽  
Malignant Diagnosis ◽  
Rule Out

<b><i>Background:</i></b> Rapid on-site cytologic evaluation (ROSE) is not always available for fine needle aspiration (FNA) specimens. We have examined the relationships between the presence of “GOOP” (defined as gooey white material) on FNA aspirates, on-site adequacy (OSA), and diagnosis. <b><i>Methods:</i></b> Consecutive FNA samples obtained over the study interval were included. Samples were assessed macroscopically for the presence or absence of GOOP (GOOP+ or GOOP−). GOOP+ samples were further characterized as shiny (G+<sub>S</sub>) or cheesy (G+<sub>C</sub>). Gross descriptors were correlated with OSA and final diagnoses. <b><i>Results:</i></b> Of the 204 sites biopsied, 102 were malignant, 94 benign, and 8 nondiagnostic. The presence of GOOP was highly predictive for adequacy (positive predictive value 98%). While these correlations for GOOP positivity were significant, the absence of GOOP did not rule out adequacy or malignancy. The presence of GOOP was also significantly correlated with a malignant diagnosis. <b><i>Conclusions:</i></b> We have prospectively demonstrated that the presence of GOOP correlates strongly with adequacy. This may be of value for those for whom ROSE is not available and, when available, may help prioritize specimens for on-site review.

THE RISK OF THYROID CANCER IN PATIENTS WITH THYROID NODULE 3 CM OR LARGER

2020 ◽  
Vol 26 (11) ◽  
pp. 1286-1290
Author(s):  
Edy Kornelius ◽  
Shih-Chang Lo ◽  
Chien-Ning Huang ◽  
Yi-Sun Yang
Keyword(s):  
Thyroid Cancer ◽  
Positive Predictive Value ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Fine Needle Aspiration ◽  
Predictive Value ◽  
Thyroid Nodules ◽  
Fine Needle Aspiration Biopsy ◽  
Needle Aspiration ◽  
Fine Needle

Objective: There are conflicting data on the risk of thyroid cancer in thyroid nodules 3 cm or larger, and few such studies on this issue have been conducted in Asia. This study aimed to examine the risk of thyroid cancer in patients with thyroid nodules 3 cm or larger. Methods: This was a 7-year retrospective study conducted in a tertiary referral hospital in Taiwan. All patients with a thyroid nodule measuring ≥3 cm who underwent thyroid operation with or without fine-needle aspiration biopsy (FNAB) were included. The prevalence rate of thyroid cancer, as well as the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and false-negative rate of FNAB for thyroid nodule ≥3 cm were also examined. Results: A total of 132 patients were included in this study. Thyroid cancer was detected in 19 of 132 (14.4%) thyroid nodules measuring ≥3 cm. The performance of FNAB for detecting cancer in nodules 3 cm or larger without considering other ultrasonography parameters was relatively poor with a sensitivity of 50%, but the specificity (100%), PPV (100 %), and NPV (93.4 %) were excellent. Conclusion: The risk of thyroid cancer for thyroid nodules ≥3 cm in this study was low. The PPV and NPV of FNAB were high for the detection of cancer in large nodules. The decision to perform thyroidectomy should not be solely based on nodule size and should include other factors, such as ultrasound characteristics and surgical risk. Abbreviations: ATA = American Thyroid Association; FNAB = fine-needle aspiration biopsy; mPTC = micropapillary thyroid carcinoma; NPV = negative predictive value; PPV = positive predictive value; PTC = papillary thyroid carcinoma

Should all patients with thyroid nodules ≥ 1 cm undergo fine-needle aspiration biopsy?

2009 ◽  
Vol 48 (03) ◽  
pp. 79-83 ◽  
Author(s):  
M. Hellmich ◽  
W. Lehmacher ◽  
W. Eschner ◽  
M. Schmidt ◽  
C. Kobe ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Fine Needle Aspiration ◽  
Predictive Value ◽  
Thyroid Nodules ◽  
Fine Needle Aspiration Biopsy ◽  
Needle Aspiration ◽  
Aspiration Biopsy ◽  
Sequential Algorithm ◽  
Fine Needle ◽  
Needle Aspiration Biopsy

SummaryThe prevalence of thyroid nodules . 1 cm is high in a previously iodine-deficient area. Under the hypothesis, that all patients with such nodules undergo fine-needle aspiration biopsy (FNAB) and that sensitivity and specificity of cytology are calculated with 85%, the positive predictive value of pathologic cytologic finding will reach 1.5% only according to Bayes-theorem. This is clinically unacceptable, as resection will be the consequence in all cases with suspect cytology. Even implementation of a second, independent test (e. g. moleculargenetic testing of thyreocytes, sensitivity to detect mutation 50%, specificity 95%) and application of sequential Bayestheorem the positive predictive value of combined pathologic findings will increase to 13% only. Nevertheless, 58% out of all thyroid cancer remain undetected by such a sequential algorithm.As a consequence, pre-selection of thyroid nodules for FNAB is required to increase the pretest-probability to at least 5.10%. A combination of sonographic criteria and scintigraphy, even in patients with normal TSHlevels, is suited to selected thyroid nodules for FNAB.

Risk of malignancy and neoplasia predicted by three molecular testing platforms in indeterminate thyroid nodules on fine-needle aspiration

2019 ◽  
Vol 47 (9) ◽  
pp. 853-862 ◽  
Author(s):  
Kristen L. Partyka ◽  
Karen Trevino ◽  
Melissa L. Randolph ◽  
Harvey Cramer ◽  
Howard H. Wu
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Fine Needle ◽  
Risk Of Malignancy

Molecular Diagnostics of Thyroid Tumors

2011 ◽  
Vol 135 (5) ◽  
pp. 569-577 ◽  
Author(s):  
Yuri E. Nikiforov
Keyword(s):  
Thyroid Cancer ◽  
Molecular Markers ◽  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Genetic Alterations ◽  
Braf V600e ◽  
Fine Needle ◽  
Molecular Alterations ◽  
Diagnostic Use

Abstract Context.—Thyroid cancer is the most common type of endocrine malignancy and its incidence is steadily increasing. Papillary carcinoma and follicular carcinoma are the most common types of thyroid cancer and represent those tumor types for which use of molecular markers for diagnosis and prognostication is of high clinical significance. Objective.—To review the most common molecular alterations in thyroid cancer and their diagnostic and prognostic utility. Data Sources.—PubMed (US National Library of Medicine)–available review articles, peer-reviewed original articles, and experience of the author. Conclusions.—The most common molecular alterations in thyroid cancer include BRAF and RAS point mutations and RET/PTC and PAX8/PPARγ rearrangements. These nonoverlapping genetic alterations are found in more than 70% of papillary and follicular thyroid carcinomas. These molecular alterations can be detected in surgically resected samples and fine-needle aspiration samples from thyroid nodules and can be of significant diagnostic use. The diagnostic role of BRAF mutations has been studied most extensively, and recent studies also demonstrated a significant diagnostic utility of RAS, RET/PTC, and PAX8/PPARγ mutations, particularly in thyroid fine-needle aspiration samples with indeterminate cytology. In addition to the diagnostic use, BRAF V600E mutation can also be used for tumor prognostication, as this mutation is associated with higher rate of tumor recurrence and tumor-related mortality. The use of these and other emerging molecular markers is expected to improve significantly the accuracy of cancer diagnosis in thyroid nodules and allow more individualized surgical and postsurgical management of patients with thyroid cancer.

Preoperative evaluation and predictive value of fine-needle aspiration and frozen section of thyroid nodules

1998 ◽  
Vol 187 (5) ◽  
pp. 494-502 ◽  
Author(s):  
Loretta A Boyd ◽  
Richard C Earnhardt ◽  
John T Dunn ◽  
Henry F Frierson ◽  
John B Hanks
Keyword(s):  
Fine Needle Aspiration ◽  
Predictive Value ◽  
Thyroid Nodules ◽  
Frozen Section ◽  
Preoperative Evaluation ◽  
Needle Aspiration ◽  
Fine Needle

scholarly journals The Role of Molecular Testing for the Indeterminate Thyroid FNA

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 736 ◽  
Author(s):  
Esther Diana Rossi ◽  
Liron Pantanowitz ◽  
William C. Faquin
Keyword(s):  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Adult Population ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Cytological Diagnosis ◽  
Fine Needle ◽  
Thyroid Fna

Thyroid nodules are common in the adult population where a majority are benign and only 4.0% to 6.5% are malignant. Fine needle aspiration (FNA) is a key method used in the early stages to evaluate and triage patients with thyroid nodules. While a definitive cytological diagnosis is provided in more than 70–75% of all thyroid FNA cases, the group of indeterminate lesions offers a challenge in terms of interpretation and clinical management. Molecular testing platforms have been developed, are recognized as an option by the 2015 American Thyroid Association Guidelines, and are frequently used in conjunction with FNA as an integral part of the cytologic evaluation. In this review, the utility of molecular testing options for nodules assigned to the group of indeterminate thyroid FNAs is described.

scholarly journals Comparison of Elastographic Strain Index and Thyroid Fine-Needle Aspiration Cytology in 631 Thyroid Nodules

2013 ◽  
Vol 98 (12) ◽  
pp. 4790-4797 ◽  
Author(s):  
Flavia Magri ◽  
Spyridon Chytiris ◽  
Valentina Capelli ◽  
Margherita Gaiti ◽  
Francesca Zerbini ◽  
...  
Keyword(s):  
Negative Predictive Value ◽  
Fine Needle Aspiration ◽  
Predictive Value ◽  
Fine Needle Aspiration Cytology ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Aspiration Cytology ◽  
Strain Index ◽  
Fine Needle ◽  
Needle Aspiration Cytology

Context: Ultrasound (US) elastography (USE) was recently been reported as a sensitive, noninvasive tool for identifying thyroid cancer. However, the accuracy of this technique is hampered by the intra- and interoperator variability, some US features of the nodule, and the coexistence of autoimmune thyroid disease (ATD). Objectives: The purpose of this article was to assess the accuracy of USE findings in the differential diagnosis of thyroid nodules compared with other US features to evaluate its feasibility in the presence of ATDs and identify the strain index (SI) cutoff with the highest diagnostic performance. Design: We evaluated 528 consecutive patients for a total of 661 thyroid nodules. All nodules underwent fine-needle aspiration cytology (FNAC) and USE evaluation. The SI was calculated as a ratio of the nodule strain divided by the strain of the softest part of the surrounding normal tissue. Results: The median SI value was significantly higher in THY4 and THY5 than in THY2 nodules in ATD-positive, ATD-negative, and ATD-unknown patients. The cutoff of SI for malignancy was estimated to be 2.905 by receiver operating characteristic curve analysis in a screening set (379 FNAC results), and then tested in a replication set (252 FNAC results). In all cases, a SI value of ≥2.905 conferred to the nodule a significantly greater probability of being malignant. This SI cutoff had the greatest area under the curve, sensitivity, and negative predictive value, compared with the conventional US features of malignancy. Conclusion: The elastographic SI has a high sensitivity, specificity, and negative predictive value for the diagnosis of thyroid malignancy both in the presence and in the absence of ATD. If our data on USE are also confirmed in THY3 nodules, FNAC could be avoided in a number of thyroid nodules with certain features.

scholarly journals Impact of Molecular Testing in the Diagnosis of Thyroid Fine Needle Aspiration Cytology: Data from Mainland China

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Hui-qin Guo ◽  
Huan Zhao ◽  
Zhi-hui Zhang ◽  
Yan-li Zhu ◽  
Ting Xiao ◽  
...  
Keyword(s):  
Fine Needle Aspiration ◽  
Fine Needle Aspiration Cytology ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Molecular Testing ◽  
Benign Lesions ◽  
Aspiration Cytology ◽  
Fine Needle ◽  
Thyroid Fine Needle Aspiration ◽  
Needle Aspiration Cytology

Background. The molecular work-up of thyroid nodules from fine needle aspiration samples has given clinicians a new level of diagnostic information. The aim of the present study was to evaluate the utility of molecular analysis in thyroid fine needle aspiration samples from a Chinese population.Methods. Specimens were collected from thyroid nodules by fine needle aspiration. Cytology diagnosis and genes analysis were performed and correlated with histology outcome.Results. A total of 83 patients with thyroid nodules were enrolled, including 20 benign lesions and 63 papillary carcinomas. BRAF and RAS mutations and RET/PTC gene rearrangements were found in 65.1%, 0%, and 1.6% of papillary carcinomas, respectively. No gene alterations were found in benign lesions. The combination of BRAF testing and cytology improved the accuracy of cytology from 69.9% to 89.2%(P<0.05). Moreover, BRAF testing confirmed 82.4% of papillary carcinomas with suspicious cytology and identified 33.3% of papillary carcinomas with atypia cytology.Conclusions. Of the three candidate markers, BRAF testing showed diagnostic utility in fine needle aspiration. Combining BRAF testing with cytology improves the accuracy of fine needle biopsy. Those who have positive BRAF and malignant or suspicious malignant cytology can undergo thyroidectomy without a frozen section.

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